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Article

Cellular and physiological functions of C9ORF72 and implications for ALS/FTD.

Journal of neurochemistry - 1 May 2021

Pang Weilun, Hu Fenghua

Abstract excerpt

The hexanucleotide repeat expansion (HRE) in the C9ORF72 gene is the main cause of two tightly linked neurodegenerative diseases, amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). HRE leads to not only a gain of toxicity from RNA repeats and dipeptide repeats but also reduced levels of C9ORF72 protein. However, the cellular and physiological functions of C9ORF72 were unknown until recently....

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Identifiers

PMID: 33259633
DOI: 10.1111/jnc.15255
PMCID: PMC8842544

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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